Ann Dermatol.  2017 Apr;29(2):243-246. 10.5021/ad.2017.29.2.243.

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

• Laroussi N
• Messaoud O
• Chargui M
• Ben Fayala C
• Elahlafi A
• Mokni M
• Bashamboo
• McElreavey K
• Boubaker M
• Yacoub Youssef H
• Abdelhak S

• KMID: 2394857
• DOI: http://doi.org/10.5021/ad.2017.29.2.243

Abstract

No abstract available.

MeSH Terms

Epidermolysis Bullosa*
Exome*
Humans

Figure

• 

  Fig. 1 Schematic representation of the predicted consequences of the donor splice-site mutation c.2701+ 1G>A in LAMB3 gene. (A) Schematic representation of LAMB3 gene. Exons are shown as numbered black rectangles. (B) A focus on exon 18 donor site wild type and mutated sequences. (C) Predicted mRNA and consequences on the predicted protein of LAMB3 gene. (D) Nucleotide sequence with the translated predicted β3 chain of laminin 332. WT: wild type, mRNA: messenger RNA, aa: amino acid, bp: base pair.

Reference

1. Masunaga T. Epidermal basement membrane: its molecular organization and blistering disorders. Connect Tissue Res. 2006; 47:55–66.

2. Kiezun A, Garimella K, Do R, Stitziel NO, Neale BM, McLaren PJ, et al. Exome sequencing and the genetic basis of complex traits. Nat Genet. 2012; 44:623–630.

3. Cheng JB, Cho RJ. Genetics and epigenetics of the skin meet deep sequence. J Invest Dermatol. 2012; 132:923–932.

4. Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, et al. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia. Arch Dermatol Res. 2014; 306:405–411.

5. Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, et al. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet. 2012; 44:586–592.

6. Baralle D, Baralle M. Splicing in action: assessing disease causing sequence changes. J Med Genet. 2005; 42:737–748.

7. Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992; 90:41–54.

8. Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, et al. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet. 2002; 110:41–51.

9. Yuen WY, Lemmink HH, van Dijk-Bos KK, Sinke RJ, Jonkman MF. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. Br J Dermatol. 2011; 165:1314–1322.